Canonical Allele Identifier: CA3122706

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158708384G>C , CM000666.2:g.158708384G>C	GRCh38
NC_000004.11:g.159629536G>C , CM000666.1:g.159629536G>C	GRCh37
NC_000004.10:g.159848986G>C	NCBI36
NG_007078.2:g.41043G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1711G>C MANE Select	NP_004444.2:p.Val571Leu
ENST00000511912.6:c.1711G>C MANE Select	ENSP00000426638.1:p.Val571Leu
NM_001281737.1:c.1570G>C	NP_001268666.1:p.Val524Leu
NM_001281737.2:c.1570G>C	NP_001268666.1:p.Val524Leu
NM_001281738.1:c.1528G>C	NP_001268667.1:p.Val510Leu
NM_004453.3:c.1711G>C	NP_004444.2:p.Val571Leu
ENST00000307738.5:c.1570G>C	ENSP00000303552.5:p.Val524Leu
ENST00000506422.1:n.681G>C
ENST00000511912.5:c.1711G>C	ENSP00000426638.1:p.Val571Leu
ENST00000681978.1:n.3247G>C
ENST00000682178.1:n.2743G>C
ENST00000682345.1:c.*1411G>C	ENSP00000508122.1:n.*1411G>C
ENST00000682452.1:n.2042G>C
ENST00000682456.1:c.1570G>C	ENSP00000508240.1:p.Val524Leu
ENST00000682566.1:n.2494G>C
ENST00000682613.1:n.2023G>C
ENST00000682734.1:c.538G>C	ENSP00000507860.1:p.Val180Leu
ENST00000682820.1:n.1748G>C
ENST00000683004.1:c.*1404G>C	ENSP00000506936.1:n.*1404G>C
ENST00000683079.1:c.*1136G>C	ENSP00000507296.1:n.*1136G>C
ENST00000683081.1:c.*1548G>C	ENSP00000507722.1:n.*1548G>C
ENST00000683181.1:n.990G>C
ENST00000683209.1:n.4037G>C
ENST00000683305.1:c.1528G>C	ENSP00000508043.1:p.Val510Leu
ENST00000683448.1:c.*631G>C	ENSP00000506931.1:n.*631G>C
ENST00000683478.1:c.*1062G>C	ENSP00000507793.1:n.*1062G>C
ENST00000683483.1:c.1567G>C	ENSP00000507719.1:p.Val523Leu
ENST00000683622.1:n.2938G>C
ENST00000683751.1:c.1216G>C	ENSP00000506944.1:p.Val406Leu
ENST00000684036.1:c.1528G>C	ENSP00000507276.1:p.Val510Leu
ENST00000684129.1:c.538G>C	ENSP00000507174.1:p.Val180Leu
ENST00000684209.1:n.2086G>C
ENST00000684296.1:c.*631G>C	ENSP00000507740.1:n.*631G>C
ENST00000684505.1:c.1660G>C	ENSP00000508237.1:p.Val554Leu
ENST00000684552.1:c.*3130G>C	ENSP00000506899.1:n.*3130G>C
ENST00000684611.1:n.3439G>C
ENST00000684622.1:c.*71G>C	ENSP00000507546.1:n.*71G>C
ENST00000684627.1:c.1528G>C	ENSP00000507471.1:p.Val510Leu
ENST00000684641.1:c.1426G>C	ENSP00000507642.1:p.Val476Leu
ENST00000684675.1:c.*558G>C	ENSP00000506934.1:n.*558G>C
ENST00000684749.1:n.1780G>C
XM_024453935.1:c.1528G>C	XP_024309703.1:p.Val510Leu